Review Note
Last Update: 04/01/2024 02:30 AM
Current Deck: Neurology::Neuromuscular
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{{c1::Autosomal recessive::Inheritance pattern}} limb-girdle muscular dystrophies often have {{c2::younger::younger or older}} age of onset, more rapid loss of strength, and {{c3::higher::higher or lower}} creatine kinase than autosomal dominant LGMDs
Notes
- The LGMDs comprise a group of disorders with the common presentation of limb-girdle pattern weakness. The most common autosomal recessive forms of LGMD are due to loss-of-function mutations affecting proteins involved in muscular structure or repair.
- Autosomal recessive LGMDs are potentially amenable to systemic gene replacement therapy, and clinical trials are already underway for the sarcoglycanopathies.
- Autosomal dominant LGMDs tend to have a milder disease course, with later age of onset.
- RNA-based therapies may provide novel approaches to future treatments, and the most common autosomal dominant LGMD, LGMDD1, may be amenable to approaches targeting protein chaperones. While taken together the LGMDs represent the fourth most common type of muscular dystrophy, individually they are rare, and better natural history studies and a better understanding of the disorders as measured by standard clinical outcome assessments can lead to improved clinical care and prepare the field for impending clinical trials.
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